Smith-Lemli-Opitz syndrome (Q998273)

From Wikidata
Jump to: navigation, search
an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase, or DHCR7.
  • Rutledge lethal multiple congenital anomaly syndrome
  • Smith-Opitz-Inborn syndrome
  • Smith–Lemli–Opitz syndrome
  • 7-dehydrocholesterol reductase deficiency
edit
Language Label Description Also known as
English
Smith-Lemli-Opitz syndrome
an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase, or DHCR7.
  • Rutledge lethal multiple congenital anomaly syndrome
  • Smith-Opitz-Inborn syndrome
  • Smith–Lemli–Opitz syndrome
  • 7-dehydrocholesterol reductase deficiency

Statements

Identifiers